A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253335



Internal ID22311053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58036358..58093540hg38UCSC Ensembl
Outerchr11:57803830..57861012hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3857183
hg1957183
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216436
Supporting Variants
SamplesNA19240
Known GenesOR9Q1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253335
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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